相关实验视频

Updated: Jan 16, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

纳米Var:用于结构变异检测的全面工作流程,以揭示基因组的隐藏模式

Asmaa Samy¹, Cheng Yong Tham², Matthew Dyer¹

¹Division of BioMedical Sciences, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada.

Nature protocols

|October 1, 2025

概括

NanoVar是一个免费的软件工具,简化了使用长读序列数据检测和分析结构变异 (SVs). 该协议使研究人员能够有效地识别基因组变异,帮助疾病和多样性研究.

科学领域:

基因组学就是基因组学.
生物信息学是一种生物信息学.
计算生物学计算生物学

背景情况:

结构变异 (SV) 对基因组多样性和疾病发展至关重要,但由于它们的复杂性,它们的特征具有挑战性.
第三代测序的进步需要改进对SV检测的分析策略.

研究的目的:

为使用NanoVar提供详细的协议,NanoVar是一个开源软件包,用于在长读测序数据中有效和可靠地检测结构变异.
为了使研究人员,即使是那些有限的命令行经验,进行全面的SV分析.

主要方法:

为NanoVar协议提供详细的逐步说明.
与其他 SV 呼叫平台的整合指南,用于全基因组长读测序数据.
为单样,队列和基因组不稳定性分析量身定制的指令.

主要成果:

使用长读序列,NanoVar可实现高效可靠的SV检测.
该协议支持各种研究设计,包括种群基因组学和非模型生物体分析.
SV可视化,过和注释是协议的组成部分.

结论:

该NanoVar协议使研究人员能够轻松识别和分析结构变异.
包括可视化和注释在内的全面的 SV 分析可以通过传统的计算资源实现.
整个过程,从读取映射到SV分析,对于典型的人类数据集,可以在大约2-5小时内完成.

更多相关视频

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

相关概念视频

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Sanger Sequencing

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...